NOVA™ Newborn Metabolic Disorders Test
An expanded genetic test that assesses a newborn’s risk for up to 51 inherited metabolic disorders. The test enables early identification of potential metabolic abnormalities and timely preventive measures.
Hidden risk: an inherited metabolic disorder
Even healthy parents can pass on a mutated gene that causes an inherited metabolic disease in their child. Such disorders often show no external signs until they have already caused irreversible harm. The NOVA™ test helps detect these conditions early – before symptoms appear – making it possible to adjust nutrition in time or start preventive treatment, thereby protecting the child’s health from serious consequences.
What does the NOVA™ newborn metabolic disorders test assess?
NOVA™ is a newborn screening test that can identify 48 inherited metabolic disorders that may lead to very severe outcomes in infancy. These conditions often do not present immediately, but early detection helps prevent serious health complications or even sudden infant death. The test assesses disorders in the following groups:
21 amino acid metabolism disorders
12 organic acid metabolism disorders
15 fatty acid oxidation disorders
Comprehensive health protection from the very first days of life
The NOVA™ test helps detect inherited metabolic disorders early, before they can harm the newborn’s body. Parents receive clear, evidence-based insights into potential risks and the actions needed to prevent disease and support healthy development.
Timely preventive treatment
Once an enzyme deficiency or intolerance to certain substances is identified, appropriate nutrition or treatment can be tailored so the disease may not develop at all.
Broader coverage than standard screening
State-funded screening in Lithuania covers only 8 metabolic disorders, while NOVA™ covers 48, significantly increasing the chance of identifying risk in time.
Fast and reliable analysis
Results are delivered within 6 business days from sample collection, using advanced liquid chromatography and mass spectrometry methods.
Reducing the burden on the healthcare system
Early diagnosis helps prevent disability or infant loss, reduces the need for long-term treatment, and lowers costs.
When and for whom is the test recommended?
For parents who want comprehensive care for their baby’s health
The test enables early detection of inherited metabolic disorders before they cause harm.
For families with a history of inherited disorders
Helps assess the baby’s risks and take targeted action before symptoms appear.
For parents who want more than standard newborn screening
NOVA™ covers 48 disorders, while state-funded screening includes only 8 metabolic disorders.
For clinicians seeking accurate diagnosis of symptoms
Broad coverage and fast results help identify the cause sooner and start appropriate treatment.
NOVA™ reliability: accuracy and quality metrics
The NOVA™ newborn metabolic disorders test uses state-of-the-art laboratory methods to quickly and accurately determine the risk of inherited disorders from just a single drop of blood.
99% test accuracy
1,000+ known pathogenic variants
Expanded newborn health screening
Take the NOVA™ test and find out whether your newborn is at risk for inherited metabolic disorders.
For Specialists
All key information in one place – from the genes analysed to test accuracy and clinical value. This section is intended for specialists who want a detailed understanding of the test rationale, structure, and practical applications.
Inherited metabolic disorders occur more frequently than standard screening covers – affecting roughly 1 in 800 to 1 in 2,500 newborns. Meanwhile, universal newborn screening in Lithuania covers only 8 metabolic disorders, with a combined frequency of about 1 in 4,500. This scope identifies only about one-fifth to one-half of all potential metabolic disorder cases.
The NOVA™ test expands diagnostic capabilities by covering 48 metabolic disorders, including amino acid metabolism disorders, organic acid metabolism disorders, and fatty acid oxidation disorders.
Early and comprehensive metabolic disorder diagnostics help prevent sudden infant death, irreversible health damage, or disability. The NOVA™ test is valuable not only for patients’ families but also for the healthcare system overall – reducing the burden of long-term treatment costs and strengthening preventive medicine.
The NOVA™ test combines liquid chromatography and tandem mass spectrometry analysis. All disorders are tested simultaneously using three drops of newborn blood collected on days 2–7 of life. The result is provided within 6 business days from receipt of the sample.
